Incidental Mutation 'R6850:Wdr75'
| ID |
535573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr75
|
| Ensembl Gene |
ENSMUSG00000025995 |
| Gene Name |
WD repeat domain 75 |
| Synonyms |
1300003A18Rik, 2410118I19Rik |
| MMRRC Submission |
044954-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R6850 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
45834326-45862779 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45853758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 390
(T390A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027139]
|
| AlphaFold |
Q3U821 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027139
AA Change: T390A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000027139
Gene: ENSMUSG00000025995
AA Change: T390A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
4 |
42 |
3.82e1 |
SMART |
|
WD40
|
45 |
85 |
1.25e-9 |
SMART |
|
WD40
|
185 |
230 |
1.61e-3 |
SMART |
|
WD40
|
239 |
275 |
4.44e0 |
SMART |
|
WD40
|
278 |
317 |
7.67e0 |
SMART |
|
low complexity region
|
405 |
417 |
N/A |
INTRINSIC |
|
WD40
|
431 |
473 |
7.67e0 |
SMART |
|
WD40
|
486 |
524 |
3.08e0 |
SMART |
|
WD40
|
527 |
568 |
3.96e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,270,318 (GRCm39) |
M927V |
probably benign |
Het |
| Agr2 |
A |
G |
12: 36,045,558 (GRCm39) |
I15V |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,523,012 (GRCm39) |
I10T |
possibly damaging |
Het |
| Art5 |
A |
G |
7: 101,747,302 (GRCm39) |
V159A |
possibly damaging |
Het |
| Asz1 |
G |
A |
6: 18,108,942 (GRCm39) |
R32W |
probably benign |
Het |
| Atp8b1 |
A |
C |
18: 64,689,923 (GRCm39) |
M603R |
possibly damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Car9 |
A |
G |
4: 43,507,321 (GRCm39) |
E3G |
probably damaging |
Het |
| Cpne3 |
A |
T |
4: 19,535,231 (GRCm39) |
I267N |
possibly damaging |
Het |
| Cyp2c65 |
T |
A |
19: 39,057,535 (GRCm39) |
F57I |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,031,604 (GRCm39) |
K980R |
probably damaging |
Het |
| Dnhd1 |
G |
T |
7: 105,369,137 (GRCm39) |
G4303W |
possibly damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,947,600 (GRCm39) |
N485D |
probably benign |
Het |
| Dusp4 |
A |
T |
8: 35,283,651 (GRCm39) |
K166* |
probably null |
Het |
| Ect2 |
T |
C |
3: 27,193,034 (GRCm39) |
D344G |
probably damaging |
Het |
| Eif2b1 |
T |
C |
5: 124,717,069 (GRCm39) |
D3G |
probably benign |
Het |
| Ermp1 |
A |
G |
19: 29,594,041 (GRCm39) |
Y710H |
probably damaging |
Het |
| Gar1 |
T |
C |
3: 129,623,038 (GRCm39) |
N117S |
probably damaging |
Het |
| H2-T10 |
A |
G |
17: 36,430,152 (GRCm39) |
L263P |
probably damaging |
Het |
| Iqcn |
A |
T |
8: 71,163,425 (GRCm39) |
N873Y |
probably damaging |
Het |
| Itga7 |
A |
T |
10: 128,781,385 (GRCm39) |
I621F |
probably damaging |
Het |
| Kcna3 |
A |
T |
3: 106,944,475 (GRCm39) |
D246V |
probably damaging |
Het |
| Kctd12 |
C |
T |
14: 103,219,414 (GRCm39) |
G155S |
probably benign |
Het |
| Lrtm1 |
T |
C |
14: 28,749,407 (GRCm39) |
V256A |
probably benign |
Het |
| Mcf2l |
T |
C |
8: 13,059,476 (GRCm39) |
F629L |
possibly damaging |
Het |
| Mphosph9 |
A |
G |
5: 124,399,019 (GRCm39) |
F999L |
probably damaging |
Het |
| Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,408,721 (GRCm39) |
|
probably benign |
Het |
| Obscn |
C |
T |
11: 58,958,950 (GRCm39) |
V3643M |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,892,955 (GRCm39) |
A6764T |
possibly damaging |
Het |
| Or4c102 |
T |
A |
2: 88,422,650 (GRCm39) |
C167* |
probably null |
Het |
| Or8g18 |
T |
C |
9: 39,149,271 (GRCm39) |
I150V |
probably benign |
Het |
| Pdhx |
T |
C |
2: 102,871,445 (GRCm39) |
H195R |
probably damaging |
Het |
| Pdilt |
A |
T |
7: 119,086,182 (GRCm39) |
V511E |
probably damaging |
Het |
| Prima1 |
C |
T |
12: 103,163,594 (GRCm39) |
D126N |
probably benign |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
C |
A |
19: 17,099,552 (GRCm39) |
D1685E |
probably benign |
Het |
| Ptgs2 |
A |
T |
1: 149,981,291 (GRCm39) |
I525F |
probably damaging |
Het |
| Rab11fip2 |
A |
T |
19: 59,925,441 (GRCm39) |
F259I |
possibly damaging |
Het |
| Ranbp3l |
C |
A |
15: 9,058,808 (GRCm39) |
D216E |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,330,815 (GRCm39) |
L1240Q |
possibly damaging |
Het |
| Sohlh2 |
A |
T |
3: 55,099,707 (GRCm39) |
T160S |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spata31h1 |
A |
C |
10: 82,128,888 (GRCm39) |
M1374R |
possibly damaging |
Het |
| Tank |
A |
G |
2: 61,480,346 (GRCm39) |
E294G |
probably benign |
Het |
| Tars1 |
T |
A |
15: 11,392,885 (GRCm39) |
Y187F |
probably benign |
Het |
| Tas2r144 |
T |
A |
6: 42,192,857 (GRCm39) |
M199K |
possibly damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,695,515 (GRCm39) |
|
probably benign |
Het |
| Tecta |
T |
A |
9: 42,255,134 (GRCm39) |
D1683V |
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,165,817 (GRCm39) |
I2098T |
probably damaging |
Het |
| Tmie |
A |
G |
9: 110,695,980 (GRCm39) |
I137T |
possibly damaging |
Het |
| Trim45 |
T |
A |
3: 100,830,541 (GRCm39) |
L105* |
probably null |
Het |
| Trpv3 |
G |
A |
11: 73,182,519 (GRCm39) |
G568S |
probably damaging |
Het |
| Wdr97 |
A |
G |
15: 76,241,996 (GRCm39) |
Y763C |
probably damaging |
Het |
| Zfp35 |
G |
A |
18: 24,135,839 (GRCm39) |
R61H |
possibly damaging |
Het |
|
| Other mutations in Wdr75 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Wdr75
|
APN |
1 |
45,841,235 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00711:Wdr75
|
APN |
1 |
45,862,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01350:Wdr75
|
APN |
1 |
45,857,420 (GRCm39) |
nonsense |
probably null |
|
|
IGL02135:Wdr75
|
APN |
1 |
45,856,608 (GRCm39) |
splice site |
probably null |
|
|
IGL02135:Wdr75
|
APN |
1 |
45,853,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB008:Wdr75
|
UTSW |
1 |
45,858,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB018:Wdr75
|
UTSW |
1 |
45,858,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4976:Wdr75
|
UTSW |
1 |
45,862,564 (GRCm39) |
utr 3 prime |
probably benign |
|
|
PIT4378001:Wdr75
|
UTSW |
1 |
45,859,333 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0060:Wdr75
|
UTSW |
1 |
45,855,777 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0463:Wdr75
|
UTSW |
1 |
45,858,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0963:Wdr75
|
UTSW |
1 |
45,856,470 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1364:Wdr75
|
UTSW |
1 |
45,838,222 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1382:Wdr75
|
UTSW |
1 |
45,856,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1562:Wdr75
|
UTSW |
1 |
45,843,030 (GRCm39) |
splice site |
probably null |
|
|
R1909:Wdr75
|
UTSW |
1 |
45,862,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2968:Wdr75
|
UTSW |
1 |
45,856,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3972:Wdr75
|
UTSW |
1 |
45,861,714 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4372:Wdr75
|
UTSW |
1 |
45,845,833 (GRCm39) |
unclassified |
probably benign |
|
|
R4720:Wdr75
|
UTSW |
1 |
45,861,645 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4922:Wdr75
|
UTSW |
1 |
45,855,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5201:Wdr75
|
UTSW |
1 |
45,862,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5242:Wdr75
|
UTSW |
1 |
45,856,487 (GRCm39) |
nonsense |
probably null |
|
|
R5255:Wdr75
|
UTSW |
1 |
45,838,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5320:Wdr75
|
UTSW |
1 |
45,838,211 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5450:Wdr75
|
UTSW |
1 |
45,851,324 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6072:Wdr75
|
UTSW |
1 |
45,838,211 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6147:Wdr75
|
UTSW |
1 |
45,858,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6341:Wdr75
|
UTSW |
1 |
45,841,291 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6629:Wdr75
|
UTSW |
1 |
45,851,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6646:Wdr75
|
UTSW |
1 |
45,838,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6722:Wdr75
|
UTSW |
1 |
45,844,512 (GRCm39) |
splice site |
probably null |
|
|
R6750:Wdr75
|
UTSW |
1 |
45,856,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6851:Wdr75
|
UTSW |
1 |
45,862,587 (GRCm39) |
missense |
probably benign |
|
|
R7172:Wdr75
|
UTSW |
1 |
45,838,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7248:Wdr75
|
UTSW |
1 |
45,856,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7809:Wdr75
|
UTSW |
1 |
45,862,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7931:Wdr75
|
UTSW |
1 |
45,858,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7937:Wdr75
|
UTSW |
1 |
45,858,799 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8171:Wdr75
|
UTSW |
1 |
45,861,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8218:Wdr75
|
UTSW |
1 |
45,857,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8724:Wdr75
|
UTSW |
1 |
45,856,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8900:Wdr75
|
UTSW |
1 |
45,838,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9400:Wdr75
|
UTSW |
1 |
45,843,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Wdr75
|
UTSW |
1 |
45,843,013 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAGCTAGTTTTCTTGGACCATTG -3'
(R):5'- ACAAGCCCCATTTCTGTATTTG -3'
Sequencing Primer
(F):5'- AGTTTTCTTGGACCATTGCTTATC -3'
(R):5'- GCCCCATTTCTGTATTTGTCAAAATG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation